Suppr超能文献

一种伴有融合的神经胶质神经元肿瘤。

A glioneuronal tumor with fusion.

作者信息

Chowdhury Tamrin, Lee Yeajina, Kim Sojin, Yu Hyeon Jong, Ji So Young, Bae Jeong Mo, Won Jae Kyung, Shin Joo Heon, Weinberger Daniel R, Choi Seung Hong, Park Chul-Kee, Kim Jong-Il, Park Sung-Hye

机构信息

Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.

Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, 03080 Korea.

出版信息

NPJ Genom Med. 2020 Jun 3;5:24. doi: 10.1038/s41525-020-0131-6. eCollection 2020.

Abstract

We report a case of glioneuronal tumor (GNT) with a discovery of novel gene fusion of resulting from aberrant chromosome 7 abnormalities. We executed an elaborate genomic study on this case including whole-exome sequencing and RNA sequencing. Genomic analysis of the tumor revealed aberrations in chromosomes 1 and 7 and a fusion. Further analysis of the upregulated genes revealed substantial connections with MAPK pathway activation. We concluded that the chromosome 7 abnormalities prompted gene fusion which successively leads to MAPK pathway activation. We deliberated that MAPK pathway activation is one of the driver pathways responsible for the oncogenesis of GNT.

摘要

我们报告了一例神经胶质神经元肿瘤(GNT),该病例因7号染色体异常而发现了新的基因融合。我们对该病例进行了详尽的基因组研究,包括全外显子组测序和RNA测序。肿瘤的基因组分析显示1号和7号染色体存在畸变以及一种融合。对上调基因的进一步分析揭示了与丝裂原活化蛋白激酶(MAPK)通路激活的大量关联。我们得出结论,7号染色体异常引发了基因融合,继而导致MAPK通路激活。我们推测,MAPK通路激活是导致GNT肿瘤发生的驱动通路之一。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45bc/7270112/6294dbaafe68/41525_2020_131_Fig1_HTML.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验